Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel mutations in LMNA A/C gene and associated phenotypes.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Dec 2015

Petillo Roberta, D'Ambrosio Paola, Torella Annalaura, Taglia Antonella, Picillo Esther, Testori Alessandro, Ergoli Manuela, Nigro Gerardo, Piluso Giulio, Nigro Vincenzo, Politano Luisa

Abstract excerpt

Mutations in the lamin A/C gene (LMNA) have been associated with several phenotypes ranging from systemic to prevalent of muscle, heart, skin, nerve etc. More recently they have been associated with dilated cardiomyopathy (DCM) and severe forms of arrhythmogenic right ventricular cardiomyopathy (ARVC). We report four novel mutations - 3 missense and 1 deletion - in 4 unrelated patients showing different...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Atrioventricular Block
Share to Brugada Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cardiac Conduction System Disease

Share to Fatal Outcome

Share to Heart Failure

Share to Lamin Type A

Share to Muscular Dystrophies

Share to Respiratory Insufficiency

Source

Open in PubMed Open full text

Identifiers

PMID: 27199538
PMCID: PMC4859074

Genes

LMNA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutations in LMNA A/C gene and associated phenotypes.PMID 27199538Read ↗

Lamin A/C cardiomyopathy presenting as high-grade atrioventricular (AV) block, atrial fibrillation, heart failure and ventricular tachycardia in a single-family cluster.Semantic proximity Read ↗

Identification of novel mutations in LMNA associated with familial forms of dilated cardiomyopathy.Semantic proximity Read ↗

Clinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy.Semantic proximity Read ↗

Novel c.367_369del LMNA mutation manifesting as severe arrhythmias, dilated cardiomyopathy, and myopathy.Semantic proximity Read ↗

Familial dilated cardiomyopathy caused by a novel variant in the Lamin A/C gene: a case report.Semantic proximity Read ↗

Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.Semantic proximity Read ↗

Mutations in the LMNA gene encoding lamin A/C.Semantic proximity Read ↗

Lamin A/C and cardiac diseases.Semantic proximity Read ↗

Heart involvement in lamin A/C related diseases.Semantic proximity Read ↗

Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations.Semantic proximity Read ↗

Lamin A/C mutations in dilated cardiomyopathy.Semantic proximity Read ↗

Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.